Biallelic missense CEP55 variants cause prenatal MARCH syndrome.

CEP55 encodes centrosomal protein 55 kDa, which plays a crucial role in mitosis, particularly cytokinesis. Biallelic CEP55 variants cause MARCH syndrome (multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly). Here, we describe a Japanese family with two affected siblings harboring novel compound heterozygous CEP55 variants, NM_001127182: c.

Prenatally Diagnosed Case of Successful Survival of an Unguarded Mitral Valve Orifice.

An unguarded mitral valve orifice is a rare condition characterized by a thinned, hypocontractile left ventricle on fetal echocardiogram. This is the first report of an unguarded mitral valve orifice with a double-outlet right ventricle and intact ventricular septum diagnosed prenatally from these typical ultrasound features.

Cat-Ear-Line: A Sonographic Sign of Cortical Development?

Objectives: Diagonal echogenic lines outside the lateral ventricle have often been observed in the anterior coronal planes of the normal fetal brain by neurosonography. We have observed abnormal shapes of these echogenic lines in cases of malformation of cortical development (MCD). We named the ultrasound finding "cat-ear-line" (CEL).

Angioimmunoblastic T-cell lymphoma with intramedullary production of platelet-derived growth factor and possibly complicating myelofibrosis: report of a case with review of the literature.

A 65-year-old man was diagnosed with angioimmunoblastic T-cell lymphoma (AITL) with bone marrow (BM) infiltration and myelofibrosis (MF). The BM infiltration and the condition of the MF improved following CHOP therapy (cyclophosphamide hydrate, doxorubicin hydrochloride, vincristine sulfate, and prednisolone). After complete remission was achieved, early central nervous system recurrence was noted, with no evidence of BM infiltration or MF.